rs4072037

This is a synonymous variant in the MUC1 gene — it does not change the protein's amino acid sequence.

GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

uric acid measurement

Allele T
OR 0.05
p 7.0e-20
N 121,745
Meta-analysisLarge GWAS
multi-ancestry

diastolic blood pressure

Allele T
OR 0.32
p 9.0e-10
N 130,777
Large GWAS
multi-ancestry

ClinVar annotation

Benign☆☆☆
3 submitters1 publication

Tubulointerstitial kidney disease, autosomal dominant, 2 (ADTKD2)

View on ClinVar →

Research that mentions this SNP (8)

Predictive model for risk of gastric cancer using genetic variants from genome‐wide association studies and high‐evidence meta‐analysis
AssociationN=2,287Lixin Qiu et al.(2020)· Cancer Medicine

This case-control study of 1,115 gastric cancer cases and 1,172 Eastern Chinese controls identified six SNPs (rs13361707, rs2294008, rs4072037, rs3762272, rs2274223, rs80142782) associated with increased gastric cancer risk with ORs ranging from 1.19–1.47. A predictive model combining these genetic variants with BMI achieved an AUC of 0.684 compared to 0.653 for BMI alone, and revealed a gene-environment interaction between low BMI and genetic risk variants.

Traits studied:Gastric cancer
Associations between interleukin‐6 gene −174 C/G and −572 C/G polymorphisms and the risk of gastric cancer: A meta‐analysis
AssociationN=213Yan‐Wei Yin et al.(2012)· Journal of Surgical Oncology

Turkish case-control study examining TRAIL and TRAIL-DR4 gene polymorphisms in gastric cancer. Compared TRAIL C1595T (rs1131580) and TRAIL-DR4 C626G (rs20575) genotype frequencies between 50 gastric cancer patients and 163 healthy controls. No significant association found between either polymorphism and gastric cancer risk (p>0.256, p>0.189) or clinical parameters including tumor stage, lymph node involvement, distant metastasis, and perineural invasion. Serum TRAIL levels were also not significantly different between groups (p>0.33).

Traits studied:Gastric cancerGastric cancer susceptibility
Association of a common genetic variant in prostate stem‐cell antigen with gastric cancer susceptibility in a Korean population
AssociationN=1,466Hye‐Rim Song et al.(2011)· Molecular Carcinogenesis

A case-control study of 692 stomach cancer cases and 774 controls in a Han Chinese population examined associations of four GWAS-identified SNPs with gastric cancer susceptibility. PSCA rs2294008 (CT: OR=1.37, 95% CI=1.07-1.74), PSCA rs2976392 (AG: OR=1.30, 95% CI=1.02-1.65), and PLCE1 rs2274223 (AG: OR=1.48, 95% CI=1.15-1.90) were all significantly associated with increased stomach cancer risk, while MUC1 rs4072037 (CT: OR=0.77, 95% CI=0.60-0.98) was protective. Carriers of multiple risk genotypes had significantly elevated cancer risk.

Traits studied:Gastric cancerStomach cancer
Genetic variant in PSCA predicts survival of diffuse‐type gastric cancer in a Chinese population
ReviewMeilin Wang et al.(2011)· International Journal of Cancer

Letter to the editor discussing peritoneal carcinomatosis from gastric cancer management and genetic susceptibility. Authors discuss GWAS findings including PSCA variants rs2976392 and rs2294008 at 8q24 associated with diffuse-type gastric cancer in Asian populations, and SNPs at 1q22 (rs4072037) and 10q23 (rs2274223) associated with gastric cancer risk in Chinese populations. The letter emphasizes the need for prospective randomized trials and future GWAS studies to identify novel genetic loci for peritoneal metastasis susceptibility.

Traits studied:Diffuse-type gastric cancerGastric cancerPeritoneal carcinomatosisPeritoneal metastasis
Polymorphisms in prostate stem cell antigen gene rs2294008 increase gastric cancer risk in Chinese
AssociationN=1,466Zhirong Zeng et al.(2011)· Molecular Carcinogenesis

Case-control study of 692 stomach cancer cases and 774 controls in a Chinese population found significant associations between four GWAS-identified SNPs and gastric cancer susceptibility: PSCA rs2294008 (OR=1.37, 95% CI=1.07-1.74), PSCA rs2976392 (OR=1.30, 95% CI=1.02-1.65), and PLCE1 rs2274223 (OR=1.48, 95% CI=1.15-1.90) increased risk, while MUC1 rs4072037 (OR=0.77, 95% CI=0.60-0.98) was protective. Subjects carrying 2-4 risk genotypes had significantly increased stomach cancer risk (OR=1.30, 95% CI=1.03-1.64).

Traits studied:Gastric cancerGastric cardia adenocarcinomaStomach cancer
Polymorphisms in genes of the steroid receptor superfamily modify postmenopausal breast cancer risk associated with menopausal hormone therapy
AssociationN=218S. Abbas et al.(2010)· International Journal of Cancer

This candidate gene association study examined 218 postmenopausal women at high breast cancer risk, testing 79 SNPs in steroid metabolism, receptor, cell cycle control, DNA repair, and carcinogen metabolism genes for associations with abnormal breast tissue cytomorphology (RPFNA atypia) as a biomarker for HRT-related breast cancer risk. Key findings: RAD54 Gln929Glu (rs3088074, OR=1.74), TFR Gly142Ser (rs3817672, OR=1.98, p=0.0025), VEGF 3'UTR (rs3025039, OR=2.12), and ACE I/D (rs4646994, OR=0.55) were associated with RPFNA atypia. RAD23B Ala249Val (rs1805329) showed strongest association with worsening cytomorphology on HRT versus off HRT (p=0.0009) and ERCC1 3'UTR (rs3212986) was borderline significant (p=0.0015). Results suggest DNA repair gene polymorphisms may modify breast tissue response to exogenous estrogens.

Traits studied:Breast cancer riskHRT-related breast cancer susceptibilityRPFNA atypia (cytomorphologic atypia in breast epithelial cells)
Genetic variation of PSCA gene is associated with the risk of both diffuse‐ and intestinal‐type gastric cancer in a Chinese population
AssociationN=1,466Yan Lu et al.(2010)· International Journal of Cancer

Case-control study of 692 stomach cancer cases and 774 controls in Han Chinese examining associations between four GWAS-identified SNPs and gastric cancer risk. PSCA rs2294008 (OR=1.37), rs2976392 (OR=1.30), and PLCE1 rs2274223 (OR=1.48) showed increased risk, while MUC1 rs4072037 was protective (OR=0.77). Combined risk genotypes increased cancer susceptibility.

Traits studied:Gastric cancerStomach cancer
Association of prostate stem cell antigen gene polymorphisms with the risk of stomach cancer in Japanese
AssociationN=1,466Keitaro Matsuo et al.(2009)· International Journal of Cancer

Case-control study (692 cases, 774 controls) in Han Chinese population examining associations of four GWAS-identified SNPs with stomach cancer risk. PSCA rs2294008 (CT vs CC: OR=1.37, 95% CI=1.07-1.74), PSCA rs2976392 (AG vs GG: OR=1.30, 95% CI=1.02-1.65), and PLCE1 rs2274223 (AG vs AA: OR=1.48, 95% CI=1.15-1.90) were associated with increased stomach cancer risk, while MUC1 rs4072037 (CT vs TT: OR=0.77, 95% CI=0.60-0.98) was protective.

Traits studied:Gastric cancerStomach cancer

About MUC1

This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]

View all MUC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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